SIAE gene

sialic acid acetylesterase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011]

From UniProt:

Catalyzes the removal of O-acetyl ester groups from position 9 of the parent sialic acid, N-acetylneuraminic acid.

From NCBI Gene:

  • Autoimmune disease 6

From UniProt:

Autoimmune disease 6 (AIS6): Individuals manifesting susceptibility to autoimmune disease type 6 can suffer from juvenile idiopathic arthritis, rheumatoid arthritis, multiple sclerosis, Sjogren syndrome, systemic lupus erythematosus, type 1 diabetes, ulcerative colitis, and Crohn disease. [MIM:613551]

Cytogenetic Location: 11q24.2, which is the long (q) arm of chromosome 11 at position 24.2

Molecular Location: base pairs 124,635,789 to 124,676,303 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q24.2, which is the long (q) arm of chromosome 11 at position 24.2
  • AIS6
  • CSE-C
  • CSEC
  • LSE
  • YSG2